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Phenotypes Associated with This Genotype
Genotype
MGI:3822157
Allelic
Composition
Tg(CAG-cat,-Ptpn11*Q97R)1Rbns/0
Tg(Tek-cre)12Flv/0
Genetic
Background
involves: C3H * C57BL/6 * FVB/N
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Tg(CAG-cat,-Ptpn11*Q97R)1Rbns mutation (0 available)
Tg(Tek-cre)12Flv mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mice are present at E13.5 and no mice are present after birth

cardiovascular system
• outflow tract cushion volume is only increased by 39% compared to in wild-type mice
• at E13.5, valve primordial has not yet undergone differentiation and extracellular remodeling as in wild-type mice
• cushion volume is increased up to 85% compared to in wild-type mice
• in some mice
• proliferation of endothelial, mesenchymal, and cardiomyocyte cells is increased compared to in wild-type
• proliferation of cells in the atrioventricular canal cushion endothelial and mesenchymal cell proliferation is increased while apoptosis is decreased compared to in wild-type mice
• however, proliferation of cardiomyocytes in the atrioventricular canal cushion is normal
• at E13.5
• some mice exhibit ventricular noncompaction

embryo

growth/size/body
• at E13.5

homeostasis/metabolism
• at E13.5, mice exhibit nuchal and back edema
• at E13.5

liver/biliary system
• at E13.5

muscle
• some mice exhibit ventricular noncompaction

integument
• at E13.5

Mouse Models of Human Disease
OMIM ID Ref(s)
Noonan Syndrome 1; NS1 163950 J:142212


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory